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Results for the Protein: Q16854
23503050

DGUOK_HUMAN RecName: Full=Deoxyguanosine kinase, mitochondrial; Short=dGK; Flags: Precursor

Known Diseases associated with this Protein:
  MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
  MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (MTDPS3)
7
0
4
0
3
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Default View:

COG1428 - COG1428
NK - cd02019
dNK - cd01673
NDUO42 - cd02030
dNK - pfam01712


Swiss-Prot Protein: Q16854
Identical to: NP_550438
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG1428COG14285.8e-0935277
dNKcd016732.5e-9540260
NKcd020197e-6740252
NDUO42cd020305.6e-0641243
dNKpfam017124.4e-75110267

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_019417Diseasep.ARG142LYSMitochondrial DNA depletion syndrome 3 (MTDPS3)
Swiss-ProtVAR_019418Diseasep.GLU227LYSMitochondrial DNA depletion syndrome 3 (MTDPS3)
Swiss-ProtVAR_023789Diseasep.LEU250SERMitochondrial DNA depletion syndrome 3 (MTDPS3)
OMIM601465.0005 Diseasep.ARG142LYSMITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
OMIM601465.0002 Diseasep.ARG105TERMITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
OMIM601465.0007 Diseasep.ASP255TYRMITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
OMIM601465.0006 Diseasep.GLU227LYSMITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)



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